Jen Lee, Principal Portfolio Consultant |
I am grateful to HEOR for the opportunity to step outside the consultancy world and attend the Genomics England Research Summit 2025.
I left feeling energised and optimistic about the future of healthcare, both in the UK and globally. Genomics is fast becoming part of our everyday health vocabulary, shaping how we prevent, understand, and treat disease. And it’s not just genomics – other ‘omics’ like proteomics, transcriptomics, and metabolomics are also gaining momentum.
But with big data comes big responsibility: how we communicate complex results to patients, how we treat consent as an ongoing process, and how we maintain trust in the secure handling of data.
What stood out most was the genuine inclusion of patient, caregiver, and participant voices in Genomics England’s mission. I had the pleasure of meeting Adam Clatworthy (Vice Chair for Rare Conditions and Participant Panel Member), who shared the power of a diagnosis – not just for clinical direction, but for connection: to care, to experts, and to others navigating the same journey.
Key takeaways that stayed with me:
- “Coproduction is greater than consultation” — Baroness Nicola Blackwood, Chair, Genomics England, on embedding patients in decision-making
- “Our daughter’s diagnosis has been more of a rollercoaster than an odyssey” — Lisa Beaton, Participant Panel Member, reflecting on the emotional complexity of the diagnostic journey
- “Parents tell it best” — Professor Emma Baple, University of Exeter & NHS South West Genomic Laboratory Hub, when sharing a video case study of infant cardiomyopathy
- >9,000 samples tested to date, with 33 results returned — Rich Scott, CEO, Genomics England, on the Generation Study exploring genome sequencing in newborns for over 200 rare but treatable conditions
It’s incredible to see where healthcare is heading and the pivotal role that both genomics data and lived experience will play in shaping its future.